Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

Abstract

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

“…In the present study, the results obtained from 469 São Miguel healthy individuals demonstrate that approximately 5% have the F5 1691A allele, the most common hereditary risk factor. Although the frequency found for São Miguel is higher than mainland Portuguese, 1% [ 22 ], we did not detect homozygous variant individuals. Nonetheless, the data suggest that São Miguel islanders have an increased predisposition to thrombosis and, most probably for CVD.…”

“…The comparison of allele frequencies of the thrombotic genetic risk factors – F5 , F2 and MTHFR – in different populations, including São Miguel, is depicted in Figure 2 [ 6 , 22 - 38 ]. F5 G1691A varies from as low as 0.67% (African-American) to 4.9% (São Miguel Island).…”

Allele polymorphism analysis of hemostasis and folate metabolism genes by real-time microchip PCR

“…It should be noted that the efficiency of the developed test system using lyophilized PCR microchip for assessment of the studied gene poly Thus, simultaneous analysis of allele polymor phism in three genes has important clinical implica tions and is necessary for assessment of the risk of development of various diseases. For example, the risk of cardiovascular diseases significantly increases in carriers of F2 and/or MTHFR mutations combined with Leiden mutation (F5 1691G>A) [13,14]. In addition, the combination of homozygous allele MTHFR 677TT and prothrombin gene F2 20210G>A increases the risk of tetraplegia in neonates [15].…”

Allele polymorphism analysis in coagulation factors F2, F5 and folate metabolism gene MTHFR by using microchip-based multiplex real time PCR

“…Таким образом, выполнение анализа с целью определения аллельного полиморфизма одновременно всех названных генов имеет важное клиническое значение и является необходимым для оценки риска развития разных заболеваний. Например, риск развития сердечно-сосудистых заболеваний значительно возрастает, если мутации в генах F2 и/или MTHFR встречаются в сочетании с мутацией Лейдена (F5 1691G>A) [13,14]. Кроме того, сочетание гомозиготного аллеля MTHFR 677ТТ и гена протромбина F2 20210G>A повышает риск развития тетраплегии у новорождённых [15].…”